Orphanet Nomenclature Training.

İSTisNA - by Istanbul Undiagnosed and Rare Diseases Solution Platform on 19-20 January; ACURARE (Acıbadem University Rare Diseases and Orphan Drugs Application and Research Center), The "Orphanet Nomenclature Training" was held with The Republic of Turkey Ministry of Industry and Technology, ISTKA (İstanbul Developmen Agency), EJPRD (European Joint Project on Rare Diseases), Istanbul University Aziz Sancar Institute of Experimental Medicine, TÜSEB (Health Institutes of Türkiye), TÜHKE (Türkiye Public Health and Chronic Diseases Institute), and Orphanet in cooperation with more than 60 participants. In this international event, the participants were informed about the utilization of Orphanet and there had been share of experiences from rare disease experts. Topics covered were: “Orphanet introduction, Orphanet terminology, difficulties in R&D research, Orphanet Turkey from past to present, How to access Orphanet data? The formation of Orphanet: Turkish Terminology, Orphanet physician experience”.

The invited speakers in this event were: Prof. Dr. Uğur Özbek Head of Medical Genetics Department of Acıbadem University, Assoc. Dr. Emrah Yücesan from Istanbul University Cerrahpaşa Institute of Neurological Sciences, Dr. Esra Arslan Ateş from Istanbul University Cerrahpaşa Medical Genetics Department, Dr. Elif Yılmaz Güleç Head of the Department of Medical Genetics Istanbul Medeniyet University, and Orphanet Nomenclature Education Project Manager Marie-Cecile. The speakers mainly  emphasized effective utilization of Orphanet for rare disease diagnosis.